ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)

gnomAD frequency: 0.00007  dbSNP: rs748644473
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052509 SCV001216721 likely benign CHARGE syndrome 2024-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195446 SCV001365819 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ile1553Ile in exon 21 of CHD7: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/52916 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs748644473).
GeneDx RCV001564851 SCV001788079 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489625 SCV002797295 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-05-04 criteria provided, single submitter clinical testing

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